Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

R. J. de Vries, B. Jaeger, D. M. E. Hellebrekers, L. Reneman, C. Verhamme, H. J. M. Smeets, M. C. van Maarle, M. de Visser*, F. E. Bleeker

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number106637
Number of pages3
JournalClinical Neurology and Neurosurgery
Volume206
DOIs
Publication statusPublished - Jul 2021

Keywords

  • C19ORF12
  • Motor neuropathy
  • Mitochondrial membrane protein-associated neurodegeneration (MPAN)
  • Neurodegeneration with Brain Iron Accumulation(NBIA)
  • HEREDITARY SPASTIC PARAPLEGIA
  • NEURODEGENERATION
  • PROTEIN

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